Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: GALC HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000450472.1:p.Ser291Arg	CA390746308 ENST00000555000.5:c.873T>G CA390746309 ENST00000555000.5:c.873T>A CA390746314 ENST00000555000.5:c.871A>C